This English born 73 year old man had severe bronchitis, deafness and obvious neurofibromatosis. He was also extremely short. He had apparently been reasonably well until the night before his admission to hospital when he was found collapsed.
At autopsy he was a dwarfed elderly man, a mere 150 cm in length and most of his body was covered with skin lumps ranging in size from a few mm to large pedunculated lesions 5 cm in diameter. These neurofibromata were most numerous on the abdomen. He had chronic bronchitis and emphysema with cor pulmonale, ischaemic heart disease with a left ventricular scar and an old left cerebral infarct in the white matter lateral to the left caudate nucleus. In the stomach there were several leiomyomata. In addition to the cutaneous neurofibromata there were many neurofibromata affecting the cervical nerves, the sympathetic chain, the spinal ganglia and chorda equina.

Macroscopic pathology

The mounted specimen shows 2 slices of the neurofibromata (only one is shown here - top picture) involving the abdominal sympathetic chain adjacent to the adrenal glands. The tumours are well circumscribed and show a fairly homogenous grey/white cut surface. The lower picture demonstrates a rectangular portion of abdominal skin bearing numerous cutaneous neurofibromata. These range in size from a few mm up to 4 cm and a number of the larger lesions are pedunculated. Many of these lesions also show superficial ulceration.

Click on any hyperlink text in the slide description above to take you to a microscopic view that illustrates the point. The picture will be resized to fill your screen. You can then enlarge the picture to full size by clicking anywhere within it. Or you can click on one of the pictures below for the same result. Press the left browser arrow to return here. Where there are numbers in brackets, these refer to the numbers of the pictures below.

Neurofibromas are formed by the combined proliferation of all the elements of a peripheral nerve - axons, Schwann cells and fibroblasts. Grossly, they tend to be fusiform in shape, involving the whole nerve, or may result in diffuse tortuous enlargement of the nerve (plexiform neurofibroma). Superficial neurofibromas may present as small soft pedunculated skin lesions - as in this case. The presence of multiple neurofibromas suggests a diagnosis of von Recklinghausen’s disease, the most common autosomal dominant condition in humans.

Learning objectives

1. Recognise the features of a neurofibroma
2. Know the various types and clinical presentations of the condition